National Institute of Standards and Technology August 23, 2016 – Federal Register Recent Federal Regulation Documents

NIST announces the Genome in a Bottle (GIAB) Consortium meeting to be held on Thursday and Friday, September 15 and 16, 2016. The Genome in a Bottle Consortium is developing the reference materials, reference methods, and reference data needed to assess confidence in human whole genome variant calls. A principal motivation for this consortium is to enable performance assessment of sequencing and science-based regulatory oversight of clinical sequencing. The purpose of this meeting is to update participants about progress of the consortium work, continue to get broad input from individual stakeholders to update or refine the consortium work plan, continue to broadly solicit consortium membership from interested stakeholders, and invite members to participate in work plan implementation. September 15 will be a new sample thinkshop to discuss new GIAB genomes in parallel with a data jamboree to develop high-confidence calls for difficult variants and difficult regions. September 16 will be the plenary session to present GIAB progress updates and emerging technical work.